Newborn disease screening: Kids who may have died or grow up severely disabled are living normal lives

A day after Adelaide Lubliner was born, a nurse pricked the heel of her foot to obtain a small blood sample for state-mandated testing for genetic disorders.

The Mount Sinai girl tested positive for the rare disease phenylketonuria, or PKU, which left untreated usually causes severe damage to a baby’s body within months, leading to lifelong cognitive and physical problems. Treatment began immediately.

"Newborn screening saved my daughter’s life," said Kristen Lubliner, 44, the mother of Adelaide, who is now 11. "It gave her the ability to live a life that is full and active, and it will allow her to be anything she wants to be."

The number of treatments for rare genetic disorders like PKU is expected to increase sharply in the next several years because of advancements in gene therapy, which allows scientists to modify, replace or add genes in people with genetic conditions. Many treatments must begin when children are very young, before a disease begins ravaging the body, which is why newborn screening is so critical.

Screening could expand far beyond the more than 50 diseases now tested in New York, because conditions typically are added to the list only when treatments become available. Although experts are excited by the prospect of so many life-transforming treatments on the horizon, they worry about the ability of the healthcare system to keep up with what in many cases are astonishingly expensive medications and procedures that can cost millions of dollars.

"The field is moving blisteringly fast," said Dr. Jerry Vockley, chief of genetic and genomic medicine at Children’s Hospital of Pittsburgh.

Doctors used to sitting down with parents to convey grim prognoses for their children now can give an increasing number of them hope.

"We’re able to offer treatments that not only are life-extending but change the entire prognosis of many of these conditions," said Dr. Jessica Gold, a geneticist at Northwell Health and assistant professor of pediatrics at Zucker School of Medicine at Hofstra/Northwell.

PKU was the first disease commonly tested in newborns nationwide, after a simple test and treatment had been developed for it. New York began screening for it in 1965.

New York and other states largely base their testing list on the federal Recommended Uniform Screening Panel.

"The real advantage in screening is identifying something you can do something about," Vockley said, which is why diseases are added as treatments emerge.

Testing is cheaper and faster than in the past and now can be done with many diseases at once, he said.

As with Adelaide, newborn screening can lead to early treatment that prevents or reduces symptoms, and that often allows a child who would have grown up seriously ill or disabled to live to a normal adulthood. They can increase life expectancies from years to decades.

Parents also can obtain genetic testing before or during pregnancy, to assess the risk of passing on a genetic condition to a baby. Most people are "silent carriers" of multiple genetic disorders, although many only potentially lead to disease in children if both parents are carriers, Gold said.

Many OB/GYNs now discuss the option with patients, said Dr. Patricia Galvin-Parton, director of inherited metabolic disorders at Stony Brook Medicine.

Catching diseases early

After Adelaide tested positive for PKU, she began taking a formula that supplements her low-protein diet. Eating too much protein causes the buildup of an amino acid that her body cannot break down.

People born before PKU newborn screening typically have severe intellectual disabilities and live in group homes, Gold said. They may have other serious symptoms as well, such as seizures and psychiatric illnesses.

"It’s really sad for us to see these people who would have been probably completely normal" if they had been tested at birth and received treatment immediately, said Galvin-Parton.

Because PKU was caught in Adelaide so early, "she will live a completely normal life," her mother said.

Metachromatic leukodystrophy, or MLD, was not added to New York’s screening list until September 2025 and to the federal panel three months later, because there had not yet been an effective treatment. The Food and Drug Administration approved a gene therapy for the disease in 2024.

Newborn screening came too late for Anna Somers, 6, of Long Beach. By the time she was diagnosed with MLD in December, the disease was too far along for the treatment to help her, her doctors told Newsday in May for a story on Anna. Her prognosis is continued cognitive and physical decline.

Her brother, Joey, 2, also tested positive, but because he was still asymptomatic, he received the treatment in July. Doctors are waiting to see how effective the treatment is; it takes months to find out.

Newborn screening increases the chances of success because the treatment is most effective if given as early as possible.

The children’s mother, Millie Grennan, said that if newborn screening had been around earlier, she would have tried to enroll Anna in clinical trials for the treatment or traveled with her to a country in the European Union, which approved the treatment in 2020. If Joey had been screened after birth, "we could have gone for treatment faster," she said.

MLD screening

New York launched MLD screening with federal money and is extending it until at least September 2027, with a federal grant. Two other conditions on the federal panel still are not part of New York newborn screening while the state searches for funding, state Health Department spokeswoman Danielle De Souza said in an email.

New York is one of only three states where MLD testing of newborns is standard, with six more expected later this year, said Dean Suhr, president and co-founder of the MLD Foundation, which helps families affected by the disease.

The biggest reason more states don’t test for MLD is the cost to implement new screening is high, although long-term costs are not, said Suhr's wife, Teryn Suhr, also a co-founder of the organization. The couple lost a daughter to MLD in 1995.

MLD Foundation is part of a coalition advocating for passage of a federal bill introduced Sept. 24 that would provide $175 million in federal funding over five years to help states implement screening for all diseases listed on the federal panel.

The cost of the screenings, though, is a tiny fraction of the price of treatments, some of which — like Joey's — cost millions of dollars. "It’s not just greed" that companies price them so high, Vockley said. Research and development costs run in the tens of millions of dollars for treatments for conditions that sometimes affect only a very small number of people, he said.

Over the next decade, there may be hundreds of new gene therapies for conditions that could be identified with newborn screening, but "we're in a phase where genetic therapies are so expensive that if we increase the number of genetic therapies by ten- or hundred- or thousand-fold, the system would just collapse," Vockley said.

Insurance companies — and the federal government and states through programs like Medicaid — would face enormous costs, he said.

One way to reduce costs is to streamline the "cumbersome" FDA approval process for gene therapies because the technology behind them is the same, said Vockley, who is part of a newly convened group of experts examining that and other newborn screening and treatment issues.

The group formed last year after the Department of Health and Human Services in April 2025 disbanded a committee that for years had reviewed which diseases should be added to the federal newborn screening list. Doctors and rare-disease organizations were initially alarmed, fearing it would slow down approvals.

But HHS said in a statement to Newsday that the move was to "strengthen newborn screening." In August, the agency announced it had asked a public-health nonprofit to establish a new group.

"The new process is specifically intended to make reviews more efficient, by supporting reviews of multiple conditions" simultaneously, HHS said.

Vockley said "if they constitute the committee correctly and keep politics out of it," the change could be beneficial.

"Most people in the field would like to see something that is more nimble," he said.